Variant report

Variant	rs830315
Chromosome Location	chr1:217271932-217271933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1166352	0.85[AMR][1000 genomes]
rs1166353	0.85[AMR][1000 genomes]
rs1339220	1.00[AMR][1000 genomes]
rs2489773	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830314	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830319	1.00[AMR][1000 genomes]
rs946435	1.00[AMR][1000 genomes]
rs946436	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217270600-217272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:217270600-217278200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:217271400-217272000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:217271800-217272000	Enhancers	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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